Symbol
Name
ID

Tgfbr1
transforming growth factor, beta receptor I
MGI:98728

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

Craniosynostosis

Micrognathia

Retrognathia

Malar flattening

Postaxial hand polydactyly

Arachnodactyly

Postaxial polydactyly

Flexion contracture

Camptodactyly

Joint hypermobility

Supernumerary ribs

Abnormal sternum morphology

Pectus carinatum

Pectus excavatum

Scoliosis

Cervical spine instability

Spondylolisthesis

Neoplasm of the skeletal system

Disease(s) Associated with TGFBR1

Loeys-Dietz syndrome 1

Lynch syndrome

Mouse Phenotypes		increased chondrocyte apoptosis	osteoarthritis	kyphosis	osteophytes	abnormal cartilage development	abnormal articular cartilage morphology	abnormal synovial joint morphology	premature cranial suture closure	premature coronal suture closure	premature lambdoid suture closure
Availability	Mouse Genotype	increased chondrocyte apoptosis	osteoarthritis	kyphosis	osteophytes	abnormal cartilage development	abnormal articular cartilage morphology	abnormal synovial joint morphology	premature cranial suture closure	premature coronal suture closure	premature lambdoid suture closure
	Tgfbr1^R244Q/Tgfbr1^R244Q
	Tgfbr1^R244Q/Tgfbr1⁺
	Tgfbr1^tm1.1Hcd/Tgfbr1⁺
	Tg(Col2a1-cre/ERT2)1Dic/0 Tgfbr1^tm1.1Karl/Tgfbr1^tm1.1Karl (conditional)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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